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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1975 1
1982 1
1984 2
1985 1
1986 1
1987 1
1989 1
1991 1
1992 1
1993 4
1994 1
1995 4
1996 2
1997 1
1998 4
1999 2
2000 2
2001 3
2004 5
2005 1
2006 1
2007 4
2008 3
2009 1
2010 3
2011 3
2012 3
2013 4
2014 7
2015 6
2016 5
2017 3
2018 5
2019 4
2020 2
2021 5
2022 2
2023 2
2024 1

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87 results

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Page 1
Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure.
Yoshimi A, Ishikawa K, Niemeyer C, Grünert SC. Yoshimi A, et al. Orphanet J Rare Dis. 2022 Oct 17;17(1):379. doi: 10.1186/s13023-022-02538-9. Orphanet J Rare Dis. 2022. PMID: 36253820 Free PMC article. Review.
Spontaneous resolution of anemia occurs in two-third of patients at the age of 1-3 years, while multisystem non-hematological complications such as failure to thrive, muscle hypotonia, exocrine pancreas insufficiency, renal tubulopathy and cardiac dysfunction develop during the c …
Spontaneous resolution of anemia occurs in two-third of patients at the age of 1-3 years, while multisystem non-hematological complications …
Mitochondrial biogenesis: pharmacological approaches.
Valero T. Valero T. Curr Pharm Des. 2014;20(35):5507-9. doi: 10.2174/138161282035140911142118. Curr Pharm Des. 2014. PMID: 24606795
They highlight a dual effect of PGC-1alpha expression on PD prognosis. Whereas a modest expression of this transcriptional co-activator results in positive effects, a moderate to substantial overexpession may have deleterious consequences. ...
They highlight a dual effect of PGC-1alpha expression on PD prognosis. Whereas a modest expression of this transcriptional co-activat …
Expert consensus document: Mitochondrial function as a therapeutic target in heart failure.
Brown DA, Perry JB, Allen ME, Sabbah HN, Stauffer BL, Shaikh SR, Cleland JG, Colucci WS, Butler J, Voors AA, Anker SD, Pitt B, Pieske B, Filippatos G, Greene SJ, Gheorghiade M. Brown DA, et al. Nat Rev Cardiol. 2017 Apr;14(4):238-250. doi: 10.1038/nrcardio.2016.203. Epub 2016 Dec 22. Nat Rev Cardiol. 2017. PMID: 28004807 Free PMC article. Review.
Despite all the available therapies, the condition carries a very poor prognosis. Existing therapies provide symptomatic and clinical benefit, but do not fully address molecular abnormalities that occur in cardiomyocytes. ...
Despite all the available therapies, the condition carries a very poor prognosis. Existing therapies provide symptomatic and clinical …
Mitochondrial cytopathies.
El-Hattab AW, Scaglia F. El-Hattab AW, et al. Cell Calcium. 2016 Sep;60(3):199-206. doi: 10.1016/j.ceca.2016.03.003. Epub 2016 Mar 4. Cell Calcium. 2016. PMID: 26996063 Review.
Currently, there are no satisfactory therapies available for mitochondrial disorders that significantly alter the course of the disease. Therapeutic options include symptomatic treatment, cofactor supplementation, and exercise....
Currently, there are no satisfactory therapies available for mitochondrial disorders that significantly alter the course of the disea …
Clinical manifestation of mitochondrial diseases.
Magner M, Kolářová H, Honzik T, Švandová I, Zeman J. Magner M, et al. Dev Period Med. 2015 Oct-Dec;19(4):441-9. Dev Period Med. 2015. PMID: 26982751 Review.
Conclusion: The clinical suspicion of a mitochondrial disorder is often delayed, or the disease remains undiagnosed. The correct diagnosis and adequate treatment can improve prognosis of the patient. Access to genetic counseling is also of great importance....
Conclusion: The clinical suspicion of a mitochondrial disorder is often delayed, or the disease remains undiagnosed. The correct diagnosis a …
Ophthalmoplegia in Mitochondrial Disease.
Lee SJ, Na JH, Han J, Lee YM. Lee SJ, et al. Yonsei Med J. 2018 Dec;59(10):1190-1196. doi: 10.3349/ymj.2018.59.10.1190. Yonsei Med J. 2018. PMID: 30450853 Free PMC article.
PURPOSE: To evaluate the classification, diagnosis, and natural course of ophthalmoplegia associated with mitochondrial disease. MATERIALS AND METHODS: Among 372 patients with mitochondrial disease who visited our hospital between January 2006 and January 2016, 21 patients …
PURPOSE: To evaluate the classification, diagnosis, and natural course of ophthalmoplegia associated with mitochondrial disease. MATE …
Retinoschisis associated with Kearns-Sayre syndrome.
Chertkof J, Hufnagel RB, Blain D, Gropman AL, Brooks BP. Chertkof J, et al. Ophthalmic Genet. 2020 Oct;41(5):497-500. doi: 10.1080/13816810.2020.1799416. Epub 2020 Aug 13. Ophthalmic Genet. 2020. PMID: 32787478 Free PMC article.
Ventricular arrhythmias in Kearns-Sayre syndrome: A cohort study using the National Inpatient Sample database 2016-2019.
Wiseman K, Gor D, Udongwo N, Alshami A, Upadhaya V, Daniels SJ, Chung WK, Koo CH. Wiseman K, et al. Pacing Clin Electrophysiol. 2022 Dec;45(12):1357-1363. doi: 10.1111/pace.14607. Epub 2022 Oct 27. Pacing Clin Electrophysiol. 2022. PMID: 36208035
We compared the outcomes of KSS to myotonic dystrophy (MD), a more common genetic disorder with similar clinical cardiac features and course. RESULTS: We identified 640 admissions for KSS. VA or dCA were lower in admissions for KSS than MD patients (2.3% vs. 4.5%, p = .009 …
We compared the outcomes of KSS to myotonic dystrophy (MD), a more common genetic disorder with similar clinical cardiac features and cou …
Overlap between ophthalmology and psychiatry - A narrative review focused on congenital and inherited conditions.
Kiely C, Douglas KAA, Douglas VP, Miller JB, Lizano P. Kiely C, et al. Psychiatry Res. 2024 Jan;331:115629. doi: 10.1016/j.psychres.2023.115629. Epub 2023 Nov 25. Psychiatry Res. 2024. PMID: 38029629 Review.
Early recognition of the signs and symptoms of those disorders is critical to earlier intervention and improved prognosis. Typically, the associations between these two medical subspecialties of ophthalmology and psychiatry are poorly understood by most practitioners so we …
Early recognition of the signs and symptoms of those disorders is critical to earlier intervention and improved prognosis. Typically, …
Hematological manifestations of primary mitochondrial disorders.
Finsterer J. Finsterer J. Acta Haematol. 2007;118(2):88-98. doi: 10.1159/000105676. Epub 2007 Jul 18. Acta Haematol. 2007. PMID: 17637511 Review.
At onset mitochondrial disorders (MID) frequently manifest as a mono-organic problem but turn into multisystem disease during the disease course in most of the cases. Organs/tissues most frequently affected in MID are the cerebrum, peripheral nerves, and the skeletal muscl …
At onset mitochondrial disorders (MID) frequently manifest as a mono-organic problem but turn into multisystem disease during the disease …
87 results